Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement

Brum, Jaime Moritz; Rizzo, Isabela Maria Pinto de Oliveira; Mello, Walquiria Domingues de; Speck-Martins, Carlos Eduardo

Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement / Distúrbio congênito da glicosilação tipo Ia: encefalopatia não-progressiva associada a envolvimento multi-sistêmico

Brum, Jaime Moritz; Rizzo, Isabela Maria Pinto de Oliveira; Mello, Walquiria Domingues de; Speck-Martins, Carlos Eduardo.

Brum, Jaime Moritz; Hospitais de Reabilitação. Brasília. BR
Rizzo, Isabela Maria Pinto de Oliveira; Hospitais de Reabilitação. Brasília. BR
Mello, Walquiria Domingues de; Rede Sarah de Hospitais de Reabilitação. São Luiz. BR
Speck-Martins, Carlos Eduardo; Hospitais de Reabilitação. Brasília. BR

Arq. neuropsiquiatr ; 66(3a): 545-548, set. 2008. ilus, tab

Article in English | LILACS | ID: lil-492594

Subject(s)

Child; Female; Humans; Brain Diseases/pathology; Brain/pathology; Congenital Disorders of Glycosylation/pathology; Glycoproteins; Phosphotransferases (Phosphomutases)/deficiency; Atrophy; Electroencephalography; Evoked Potentials; Glycosylation; Glycoproteins/blood; Glycoproteins/deficiency; Magnetic Resonance Imaging; Phosphotransferases (Phosphomutases)/analysis

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Full text: Available Index: LILACS (Americas) Main subject: Brain / Brain Diseases / Glycoproteins / Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation Type of study: Risk factors Limits: Child / Female / Humans Language: English Journal: Arq. neuropsiquiatr Journal subject: Neurology / Psychiatry Year: 2008 Type: Article Affiliation country: Brazil Institution/Affiliation country: Hospitais de Reabilitação/BR / Rede Sarah de Hospitais de Reabilitação/BR

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